A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450534



Internal ID228738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238196357..238196442hg38UCSC Ensembl
chr2:239104998..239105083hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927082
Samples
Known GenesILKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450534
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer